PB2652: EVALUATION OF 6 CASES WITH FXIII DEFICIENCY: SINGLE CENTRE EXPERIENCE
Authors: Fahri Sahin, Denis Bozer, Zuhal Demirci, Guray Saydam
Journal: HemaSphere (2023)

Topic: 33. Bleeding disorders (congenital and acquired) Background: Factor XIII (FXIII) is a protransgulitaminase involved in the final stage of the coagulation cascade. It consists of two subunits, FXIIIA and FXIIIB, and plays a role in clot stabilization. FXIII deficiency can cause bleeding, delayed wound healing, and intracranial bleeding at a rate of 25-30%, usually 12-36 hours after trauma, without abnormalities in coagulation tests. In addition, Factor XIII deficiency may cause umbilical cord bleeding immediately after birth, and severe bleeding after circumcision (1, 2). Aims: In this article, the analyzes of the cases followed up in our clinic with the diagnosis of Factor XIII deficiency are presented. Methods: Six patients with Factor XIII deficiency followed in Ege Adult Hemophilia and Trombosis Centre were evaluated respectively. Patients’ age, gender, age at diagnosis, bleeding history, bleeding characteristics, family history, and treatment were recorded separately for each patient. Datas was obtained from patient files and electronic record system. Results: The median age of our 6 cases followed up with FXIII deficiency was 36 (23-55), all of them were diagnosed in childhood. Three cases were diagnosed with recurrent mucosal bleeding, 2 cases with soft tissue bleeding, and 1 case due to prolonged bleeding after circumcision. 50% of the cases described a history of prolonged umbilical cord hemorrhage. 5 patients were male and 1 patient was female. Except for our two sibling patients who were followed up, the other patients had no family history. The factor levels of the cases at the time of diagnosis are given in Table 1. Five patients had a history of subarachnoid hemorrhage (SAH), and 3 patients had a history of iliopsoas hemorrhage. Two of our cases were diagnosed from Germany and receive prophylaxis treatment with a preparation containing FXIII every four weeks. Two of our cases are being followed up with cryoprecipitate and two of our cases are being followed up with TDP prophylaxis when needed. In our cases, there was no history of life-threatening bleeding other than SAH. Summary/Conclusion: Factor XIII deficiency, first reported by Duckert in 1960, is inherited autosomal recessively. According to the genetic defect that occurs, two types of deficiencies are defined. In Type I deficiency, there is a decrease in the formation of the molecule, whereas in Type II deficiency, there is a molecule in normal or near-normal concentration, but showing dysfunction. FXIII deficiency is a rare disease that can be diagnosed with clinical awareness. FXIII deficiency should be considered in cases with normal coagulation tests describing spontaneous skin, mucosa, soft tissue, trauma, and post-surgical anaemia, and further tests should be planned for these. Fresh frozen plasma, plasma-derived FXIII concentrate and cryoprecipitate have been used successfully in the treatment of patients with Factor XIII deficiency. Similar to the data in our cases, FXIII deficiency has been shown to increase the frequency of intracranial hemorrhage (3). When the diagnosis is made, the frequency of life-threatening bleeding can be reduced with appropriate prophylaxis methods. 1. Miloszewski KJ: Factor XIII deficiency (review): Br J Haematol, (1999)107: 468-484 2. Newman RS, Jalili M, Kools BJ, et al: Factor XIII Deficiency Mistaken for Battered Child Syndrome:Case of “correct“ Test Ordering Negated by a Commenly Accepted Qualitative Test With Limited Negative Predictive value. Am J Hematol, (2002) 71:328-330 3. Gerlach R,Raabe A,Zimmerman M, et al.: Factor XIII Deficiency and Postoperative Hemorrhage After Neurosurgical Procedures, Surg Neurol, (2000)54: 260-266 Keywords: Factor XIII